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 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The concept of confined placental mosaicism and its relationship to genomic imprinting and uniparental disomy is explained in this chapter. Clinically significant imprinting syndromes, such as Prader-Willi syndrome, Angelman syndrome, Beckwith-Wiedemann syndrome, Silver-Russell syndrome and transient neonatal diabetes mellitus, potentially associated with confined placental mosaicism are described and referenced. Non-Mendelian inheritance of recessive mutations in uniparental disomy is illustrated. Both skewed X chromosome inactivation and isolated gonadal mosaicism are outlined as newly recognized consequences of post-zygotic chromosomal mutation and confined placental mosaicism. Clinical management of pregnancies with confined placental mosaicism is proposed as well as future research directions in the field of confined placental mosaicism and its consequences.
Baillieres Best Pract Res Clin Obstet Gynaecol 2000 Aug
PMID:Confined placental mosaicism and genomic imprinting. 1098 41

Although levonorgestrel contraceptive implants have been available for over 15 years, innovations have only recently led to a wider choice. These new implants offer easier insertion and removal and other advantages depending on the type of progestin. Implants prevent pregnancy by several mechanisms, including inhibition of ovulation and luteal function and alteration of cervical mucus and the endometrium. The high efficacy and ease of maintenance make implants an ideal contraceptive for many women, including adolescents, a population that uses implants infrequently but reports high satisfaction. Implants are appropriate for women who are breastfeeding, who have contraindications to estrogen, or who have diseases such as diabetes, hypertension, sickle cell anemia, or an HIV infection because implants have few metabolic or hematologic effects. Long-term use has not been associated with a decrease in BMD and generally leads to increased blood levels and iron stores. Women who wish to space their pregnancies appreciate the nearly immediate onset of action with insertion and the rapid termination of all effects with removal. All types of implants lead to menstrual changes and other side effects in some women. Adverse effects that occur in implant users more than the general population include headaches and acne. Women must be thoroughly counseled regarding the potential for menstrual alteration, side effects, and sexually transmitted infections if they do not use condoms. Despite their initial high cost, implants are a cost-effective method over several years, even when discontinued before the life of the implant.
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PMID:Implantable contraception. 1109 88

This chapter reviews current developments and future directions in clinical islet transplantation. With the recent introduction of glucocorticoid-free immunosuppressive therapies and improved methods for islet isolation, the success of the procedure has increased substantially. Challenges ahead include progress with international multicentre trials, development of single donor protocols, progress in clinical tolerance based therapies to lower overall risk of immunosuppression, and ultimately finding an alternative source to provide effective therapy for more patients with diabetes. Recent advances in stem cell biology and xenotransplantation may soon provide this opportunity.
Best Pract Res Clin Endocrinol Metab 2001 Jun
PMID:Pancreatic islet transplantation in the treatment of diabetes mellitus. 1147 37

Endometrial cancer is the commonest gynaecological cancer mostly affecting women in the post-menopausal age group. Rates vary worldwide and are highest in white women in Western populations. Some risk factors are related to reproduction, such as early age at menarche, late age at menopause and nulliparity, while others are more directly oestrogen-related, for example, conditions such as the polycystic ovarian syndrome. Use of unopposed oestrogen replacement therapy is associated with an increased risk, and use of the combined oral contraceptive pill is associated with a decreased risk. The relationship between tamoxifen and endometrial cancer is not established. Obesity, diabetes and hypertension increase the risk of endometrial cancer while smoking, low-fat diets and physical exercise appear to decrease the risk; all of these possibly exert their effects by various indirect influences on oestrogen levels, thus influencing the level of stimulation of the target endometrial epithelium.
Best Pract Res Clin Obstet Gynaecol 2001 Jun
PMID:Epidemiology of endometrial cancer. 1147 57

Women suffering from type-2 diabetes mellitus (NIDDM) show a more android fat pattern than healthy females, but to date no exact determination of their fat distribution differences exists. Measurements at 15 specified body sites with an optical device, the LIPOMETER, provide a subcutaneous adipose tissue topography (SAT-Top) of the individual. SAT-Top of 20 female NIDDM patients and 122 healthy controls was measured. ROC curve analysis was applied to evaluate the discriminative power of each body site and to provide cutoff values. Then a classification tree by the CART algorithm was established, showing SAT-Top differences between the two groups. Best discriminating results were achieved by the neck site (ROC area index = 0.76, sensitivity = 61.3%, specificity = 77.8%), the four sites of the thigh (area indices from 0.71 to 0.76), and a linear combination of all body sites stemming from a previous factor analysis, which provides condensed information of the extremities SAT-Top (area index = 0.80, sensitivity = 80.4%, specificity = 64.6%). The results could be improved by a summary measure of "android fat pattern" (area index = 0.89, sensitivity = 73.6%, specificity =88.3%) and a proportional measure of SAT-distribution, the relative neck (area index = 0.84, sensitivity = 83.0%, specificity = 70.5%). Overall, 136 (95.8%) of the 142 subjects were correctly classified by the classification tree (sensitivity = 75%, specificity = 99.2%). Both methods show the expected increased upper trunk obesity and decreased lower body obesity of NIDDM women compared with healthy females. Am. J. Hum. Biol. 12:388-394, 2000. Copyright 2000 Wiley-Liss, Inc.
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PMID:ROC and CART analysis of subcutaneous adipose tissue topography (SAT-Top) in type-2 diabetic women and healthy females. 1153 29

Type 1 diabetes mellitus is a T-cell-mediated autoimmune disease characterized by the selective destruction of pancreatic beta cells. Susceptibility to the disease is determined by a combination of genetic and environmental factors. The genetic factors are termed 'susceptibility genes' as they modify the risk of diabetes but are neither necessary nor sufficient for disease to develop. A large number of chromosomal regions have been identified as containing potential diabetes susceptibility genes. The IDDM1 locus, which encompasses the major histocompatibility complex on chromosome 6, is the major genetic risk factor. The HLA-DQ genes are the primary susceptibility genes within this region, although other genes may also contribute. The IDDM2 locus maps to a variable number of tandem repeats in the insulin gene region on chromosome 11. Further research is necessary to determine the precise location and identity of other diabetes susceptibility genes.
Best Pract Res Clin Endocrinol Metab 2001 Sep
PMID:Genetics of type 1 diabetes. 1155 71

Maturity-onset diabetes of the young is a heterogeneous group of autosomal dominantly inherited, young-onset beta-cell disorders. At least two consecutive generations are affected with a family member diagnosed before 25 years of age. Diabetes is caused either by mutations in the glucokinase gene (glucokinase MODY) or by mutations in transcription factors (transcription factor MODY). Glucokinase maturity-onset diabetes of the young is a mild, non-progressive hyperglycaemia caused by a resetting of the pancreatic glucose sensor. It is treated with diet, and complications are rare. Pregnancies affected by glucokinase mutations have specific management strategies and prognosis. Transcription factor maturity-onset diabetes of the young, caused by mutations in the hepatocyte nuclear factor genes HNF-1alpha, HNF-4alpha and HNF-1beta, and in insulin promoter factor-1 results in a progressive beta-cell defect with increasing treatment requirements and diabetic complications. Cystic renal disease is a prominent feature of HNF-1beta mutations. Further maturity-onset diabetes of the young genes remain to be identified. MODY is part of the differential diagnosis of diabetes presenting in the first to third decades of life. Diagnostic molecular genetic testing is available for the more common genes involved.
Best Pract Res Clin Endocrinol Metab 2001 Sep
PMID:Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. 1155 73

Inherited diabetes syndromes are individually rare but collectively make up a significant proportion of patients attending diabetes clinics, some of whom have multiple handicaps. This chapter focuses on syndromes in which major advances have been made in our understanding of the underlying molecular genetics. These conditions demonstrate novel genetic mechanisms such as maternal inheritance and genetic imprinting. They are also fascinating as they aid our understanding of insulin metabolism, both normal and abnormal. As the causative genes are identified, future issues will be the availability of genetic testing, their contribution to the genetic heterogeneity of the more common types of diabetes, and functional studies of the relevant proteins. It is probable that other subtypes of diabetes will be identified as the relevant metabolic pathways are characterized. This is an exciting time to be a diabetes physician as diabetology returns to being a diagnostic rather than a mainly management-based speciality.
Best Pract Res Clin Endocrinol Metab 2001 Sep
PMID:Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes. 1155 74

The prevention of diabetes and its devastating complications is the prime goal of diabetes care. In immune-mediated type 1 diabetes, beta cell destruction can be predicted with increasing confidence both before and after diagnosis, thus allowing the development of preventative strategies. Multicentre clinical trials with the natural products insulin and nicotinamide have been launched, but the results will only be available in a few years time. Meanwhile, observational studies in large representative risk groups can help to refine the selection of subjects with a more homogenous risk for beta cell destruction, thereby reducing the need for large sample sizes. The comparison between biological markers and disease progression will help to define surrogate disease end-points that can be monitored before the hard clinical end-points of hyperglycaemia or remission. These advances will facilitate the start of new pilot trials to identify relatively safe candidate interventions adapted to disease stage.
Best Pract Res Clin Endocrinol Metab 2001 Sep
PMID:Prospects for predicting and stopping the development of type 1 of diabetes. 1155 77

This chapter reviews the treatment of endocrine disease in pregnancy, including diabetes mellitus, hypo- and hyperthyroidism, adrenal and pituitary disorders, and hyper- and hypoparathyroidism. Pregnancy in some of these disorders is relatively rare, so that management is often based on limited information and clinical judgement rather than on strong evidence-based criteria.
Best Pract Res Clin Obstet Gynaecol 2001 Dec
PMID:Drugs in pregnancy. Endocrine disease (including diabetes). 1180 May 30


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